Gene Mutations
 
Records Return:  (13) Show
 
GeneGene Omim NumberDisease Omim NumberChromosome LocationGene MutationAllelic VariantOmim PhenotypeSample Count
PPT16007222567301p32255_257delCTT CEROID LIPOFUSCINOSIS, NEURONAL 1, INFANTILE; CLN11
PPT16007222567301p32ARG122TRP0001CEROID LIPOFUSCINOSIS, NEURONAL 1, INFANTILE; CLN11
PPT16007226006801p32ARG151TER0006CEROID LIPOFUSCINOSIS, JUVENILE NEURONAL, WITH GRANULAR OSMIOPHILIC6
PPT16007222567301p32ARG164TER CEROID LIPOFUSCINOSIS, NEURONAL 1, INFANTILE; CLN12
PPT16007226006801p32ASP79GLY0003CEROID LIPOFUSCINOSIS, JUVENILE NEURONAL, WITH GRANULAR OSMIOPHILIC1
PPT16007222567301p32GLN177GLU CEROID LIPOFUSCINOSIS, NEURONAL 1, INFANTILE; CLN12
PPT16007222567301p32GLN291TER CEROID LIPOFUSCINOSIS, NEURONAL 1, INFANTILE; CLN11
PPT16007222567301p32GLY42GLU CEROID LIPOFUSCINOSIS, NEURONAL 1, INFANTILE; CLN11
PPT16007226007221p32MET1ILE CEROID LIPOFUSCINOSIS, NEURONAL 1, INFANTILE, CLN11
PPT16007226006801p32THR75PRO0002CEROID LIPOFUSCINOSIS, JUVENILE NEURONAL, WITH GRANULAR OSMIOPHILIC2
PPT16007222567301p32TRP296TER CEROID LIPOFUSCINOSIS, NEURONAL 1, INFANTILE; CLN11
PPT16007226007221p32TYR247HIS CEROID LIPOFUSCINOSIS, NEURONAL 1, INFANTILE; CLN11
PPT16007222567301p32VAL181MET CEROID LIPOFUSCINOSIS, NEURONAL 1, INFANTILE; CLN11